The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations (original) (raw)
Variable ACTH-Stimulated 17-Hydroxyprogesterone Values in 21-Hydroxylase Deficiency Carriers Are Not Related to the Different CYP21 Gene Mutations
Berenice Mendonca
The Journal of Clinical Endocrinology & Metabolism, 2002
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Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism
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The Journal of Clinical Endocrinology & Metabolism, 2002
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Research Article Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
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Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
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Archives of Endocrinology and Metabolism, 2022
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Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
Vassos Neocleous, Leonidas Phylactou, Nicos Skordis
Indian Journal of Endocrinology and Metabolism, 2014
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Common Genetic Variants of the Human Steroid 21- Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels
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Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
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CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
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Hormone and Metabolic Research, 2013
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Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia
Nicos Skordis
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Christopher Aston
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Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche
Daniela Carta
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An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity
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The Journal of Clinical Endocrinology & Metabolism, 2002
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Frequency of CYP21 Gene Mutations in Czech Patients with Steroid 21-Hydroxylase Deficiency and Statistical Comparison with Other Populations
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Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
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Experimental and Clinical Endocrinology & Diabetes, 2008
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Clinical …, 2000
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Monogenic and Polygenic Models Detected in Steroid 21-Hydroxylase Deficiency-Related Paediatric Hyperandrogenism
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A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation
Henrik Falhammar
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Limited Value of Serum Steroid Measurements in Identification of Mild Form of 21-Hydroxylase Deficiency
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Didier Dewailly
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Hamza Nasir
Annals of pediatric endocrinology & metabolism, 2018
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Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study* 1
Luis Alfonso Hincapie
Fertility and sterility, 1999
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Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
Vassos Neocleous
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Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Young-Ah Lee
Journal of Korean medical science, 2011
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